Variant report

Variant	rs5965084
Chromosome Location	chrX:65236433-65236434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chrX:65234004-65243893	K562	blood:	n/a	n/a
2	POLR2A	chrX:65235037-65237648	GM15510	blood:	n/a	n/a
3	IRF1	chrX:65234877-65237552	K562	blood:	n/a	chrX:65236837-65236846 chrX:65235966-65235975 chrX:65237233-65237242 chrX:65236509-65236526
4	JUN	chrX:65234808-65237603	K562	blood:	n/a	chrX:65235966-65235974 chrX:65237232-65237241 chrX:65235966-65235973 chrX:65236741-65236755
5	TBL1XR1	chrX:65234590-65243407	K562	blood:	n/a	n/a
6	POLR2A	chrX:65234870-65239435	K562	blood:	n/a	n/a
7	POLR2A	chrX:65234515-65244251	K562	blood:	n/a	n/a
8	POLR2A	chrX:65234927-65244173	K562	blood:	n/a	n/a
9	POLR2A	chrX:65234135-65246356	NB4	blood:	n/a	n/a
10	POLR2A	chrX:65234453-65243909	K562	blood:	n/a	n/a
11	POLR2A	chrX:65234927-65236521	GM12892	blood:	n/a	n/a
12	JUND	chrX:65234698-65236535	K562	blood:	n/a	chrX:65235966-65235974 chrX:65235966-65235973
13	TBP	chrX:65234962-65236456	K562	blood:	n/a	n/a
14	POLR2A	chrX:65234363-65244036	K562	blood:	n/a	n/a
15	POLR2A	chrX:65234921-65239429	GM12892	blood:	n/a	n/a
16	IRF1	chrX:65234575-65237598	K562	blood:	n/a	chrX:65236837-65236846 chrX:65235966-65235975 chrX:65237233-65237242 chrX:65236509-65236526
17	POLR2A	chrX:65234932-65239158	GM19099	blood:	n/a	n/a
18	UBTF	chrX:65234917-65237478	K562	blood:	n/a	n/a
19	MAZ	chrX:65234940-65236538	K562	blood:	n/a	chrX:65236407-65236416
20	ZC3H11A	chrX:65236352-65236857	K562	blood:	n/a	n/a
21	POLR2A	chrX:65234885-65236434	GM12892	blood:	n/a	n/a
22	POLR2A	chrX:65234813-65239253	GM18505	blood:	n/a	n/a
23	POLR2A	chrX:65235007-65239030	GM12878	blood:	n/a	n/a
24	CUX1	chrX:65236387-65239429	K562	blood:	n/a	n/a
25	HEY1	chrX:65234950-65237265	K562	blood:	n/a	n/a
26	POLR2A	chrX:65234896-65237719	K562	blood:	n/a	n/a
27	ZMIZ1	chrX:65234947-65237158	K562	blood:	n/a	n/a
28	POLR2A	chrX:65234921-65239175	K562	blood:	n/a	n/a
29	UBTF	chrX:65234619-65239721	K562	blood:	n/a	n/a
30	HCFC1	chrX:65236332-65236528	K562	blood:	n/a	n/a
31	POLR2A	chrX:65234498-65243895	K562	blood:	n/a	n/a
32	POLR2A	chrX:65234449-65243604	HL-60	blood:	n/a	n/a
33	POLR2A	chrX:65231192-65243901	GM12891	blood:	n/a	n/a
34	POLR2A	chrX:65231803-65243685	HL-60	blood:	n/a	n/a
35	PML	chrX:65234788-65237709	K562	blood:	n/a	n/a
36	EP300	chrX:65234825-65236880	K562	blood:	n/a	chrX:65235775-65235789
37	TEAD4	chrX:65234874-65239286	K562	blood:	n/a	n/a
38	MAFK	chrX:65236012-65238323	K562	blood:	n/a	n/a
39	POLR2A	chrX:65235004-65236474	GM12892	blood:	n/a	n/a
40	POLR2A	chrX:65234741-65239877	PBDE	blood:	n/a	n/a
41	TAF7	chrX:65234995-65238026	K562	blood:	n/a	n/a
42	POLR2A	chrX:65234508-65246309	K562	blood:	n/a	n/a
43	POLR2A	chrX:65235034-65237695	GM19193	blood:	n/a	n/a
44	HEY1	chrX:65234920-65236458	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:64968335..64970690-chrX:65234739..65237009,2	K562	blood:
2	chrX:65142972..65146034-chrX:65235370..65237820,3	K562	blood:
3	chrX:65189823..65192630-chrX:65235088..65237967,2	K562	blood:
4	chrX:65189285..65192630-chrX:65233723..65237967,3	K562	blood:
5	chrX:65235453..65237438-chrX:65269421..65272250,2	K562	blood:
6	chrX:64953341..64955397-chrX:65234787..65236795,2	K562	blood:

Variant related genes	Relation type
MIR223	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs3848900	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs3848901	1.00[CEU][hapmap]
rs3903921	0.90[CEU][hapmap]
rs3903922	1.00[CEU][hapmap]
rs5964486	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs5964487	1.00[CEU][hapmap]
rs5964488	1.00[CEU][hapmap]
rs5964489	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs5965083	0.89[CEU][hapmap]
rs5965085	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs5965087	1.00[CEU][hapmap];0.94[YRI][hapmap]
rs9306698	1.00[CEU][hapmap]
rs9633155	1.00[CEU][hapmap]
rs9887348	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429625	chrX:64787230-65458721	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv995042	chrX:65121634-65953299	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:65230600-65236600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chrX:65231400-65237600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chrX:65231800-65239000	Enhancers	Fetal Thymus	thymus
4	chrX:65231800-65244000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chrX:65232000-65237200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chrX:65232000-65239000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chrX:65232200-65237800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chrX:65233600-65237800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chrX:65234200-65241800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chrX:65234600-65236600	Weak transcription	Colonic Mucosa	Colon
11	chrX:65234600-65237200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chrX:65234800-65236600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chrX:65234800-65236800	Flanking Active TSS	Primary T cells from cord blood	blood
14	chrX:65235000-65238200	Active TSS	Duodenum Mucosa	Duodenum
15	chrX:65235000-65239000	Flanking Active TSS	GM12878-XiMat	blood
16	chrX:65235200-65237000	Active TSS	Primary monocytes fromperipheralblood	blood
17	chrX:65235200-65237400	Active TSS	Rectal Mucosa Donor 29	rectum
18	chrX:65235400-65237400	Active TSS	Brain Angular Gyrus	brain
19	chrX:65235400-65237400	Active TSS	Fetal Muscle Leg	muscle
20	chrX:65235400-65238600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chrX:65235400-65238800	Active TSS	Brain Hippocampus Middle	brain
22	chrX:65235600-65236600	Weak transcription	Fetal Muscle Trunk	muscle
23	chrX:65235600-65236800	Active TSS	Primary B cells from peripheral blood	blood
24	chrX:65235600-65237400	Active TSS	Adipose Nuclei	Adipose
25	chrX:65235600-65238200	Active TSS	Placenta	Placenta
26	chrX:65235600-65238400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chrX:65235600-65238600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chrX:65235600-65239000	Enhancers	Primary T cells fromperipheralblood	blood
29	chrX:65235600-65241600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chrX:65235800-65236600	Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chrX:65235800-65237000	Flanking Active TSS	Primary B cells from cord blood	blood
32	chrX:65235800-65237600	Active TSS	Liver	Liver
33	chrX:65235800-65238600	Enhancers	Dnd41	blood
34	chrX:65235800-65239200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chrX:65235800-65241800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chrX:65236000-65239000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chrX:65236200-65236800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chrX:65236200-65237200	Active TSS	Rectal Smooth Muscle	rectum
39	chrX:65236200-65237200	Weak transcription	Small Intestine	intestine
40	chrX:65236400-65240800	Transcr. at gene 5' and 3'	K562	blood
41	chrX:65236400-65242000	Enhancers	Primary T helper cells fromperipheralblood	blood

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